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Medicina Clínica (English Edition) Biomarkers in transthyretin amyloidosis. Present and future
Journal Information
Vol. 164. Issue 11.
(June 2025)
Review
Biomarkers in transthyretin amyloidosis. Present and future
Biomarcadores en amiloidosis por transtirretina. Presente y futuro
Fernando Martínez Valle
Corresponding author
, Carmen Pérez Bocanegra
Medicina Interna, Hospital Vall d’Hebron, Barcelona, Spain
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Special issue
This article is part of special issue:
Transthyretin amyloidosis

Edited by: Dr. Juan González Moreno - Hospital Universitario, Spain. Dra. Inés Losada López - Hospital Universitario, Spain

Last update: August 2025

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Abstract

The appearance of new treatments for the different forms of ATTR has highlighted the importance of early diagnosis, since most of these treatments are highly effective in the initial phases of the disease. Currently, the diagnosis of ATTR is fundamentally based on clinical findings, cardiac imaging and neurophysiological parameters, and it is common a delay in diagnosis, and this occurs very frequently in advanced phases of the disease. The appearance of different biomarkers attempts to promote early diagnosis, as well as stratify into different risk groups, which can benefit from specific treatments, as well as obtain prognostic data from patients. This article reviews the different biomarkers currently available in ATTR and potential future biomarkers.

Keywords:
Amyloidosis
Biomarkers
Early diagnosis
Risk stratification
Resumen

La aparición de nuevos tratamientos para las diferentes formas de A-ATTR ha puesto de manifiesto la importancia de un diagnóstico precoz, ya que la mayor parte de dichos tratamientos son altamente efectivos en las fases iniciales de la enfermedad. En la actualidad, el diagnóstico de la ATTR se apoya fundamentalmente en los hallazgos clínicos, de imagen cardíaca y parámetros neurofisiológicos, siendo habitual que se produzca un retraso diagnóstico, y que éste ocurra muy frecuentemente en fases avanzadas de la enfermedad. Para facilitar el diagnóstico precoz se están desarrollando distintos biomarcadores, así como para clasificar en diferentes grupos de riesgo que se pueden beneficiar de tratamientos específicos, para ayudar a establecer el pronóstico de los pacientes y la respuesta al tratamiento. En este artículo se revisan los diferentes biomarcadores disponibles en la actualidad en la A-ATTR y potenciales biomarcadores futuros.

Palabras clave:
Amiloidosis
Biomarcadores
Diagnóstico precoz
Estratificación de riesgo

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